A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14295214



Internal ID3703167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120788250..120794542hg38UCSC Ensembl
Innerchr11:120788256..120794536hg38UCSC Ensembl
Outerchr11:120788244..120794548hg38UCSC Ensembl
chr11:120658959..120665251hg19UCSC Ensembl
Innerchr11:120658965..120665245hg19UCSC Ensembl
Outerchr11:120658953..120665257hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg386293
hg196293
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627910
Supporting Variants
SamplesHG03303
Known GenesGRIK4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14295214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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